Search Results - "Uva, Paolo"
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Gut microbiota markers associated with obesity and overweight in Italian adults
Published in Scientific reports (09-03-2021)“…In the present study, we characterized the distinctive signatures of the gut microbiota (GM) from overweight/obese patients (OB), and normal-weight controls…”
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Gut Microbiota and Metabolome Alterations Associated with Parkinson’s Disease
Published in mSystems (01-10-2020)“…To our knowledge, this is one of the few studies thus far that correlates the composition of the gut microbiota with the direct analysis of fecal metabolites…”
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3
Orione, a web-based framework for NGS analysis in microbiology
Published in Bioinformatics (Oxford, England) (01-07-2014)“…End-to-end next-generation sequencing microbiology data analysis requires a diversity of tools covering bacterial resequencing, de novo assembly, scaffolding,…”
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Gut Microbiota Markers and Dietary Habits Associated with Extreme Longevity in Healthy Sardinian Centenarians
Published in Nutrients (01-06-2022)“…This study was aimed at characterizing the gut microbiota (GM) and its functional profile in two groups of Sardinian subjects with a long healthy life…”
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Exploration of Tools for the Interpretation of Human Non-Coding Variants
Published in International journal of molecular sciences (01-11-2022)“…The advent of Whole Genome Sequencing (WGS) broadened the genetic variation detection range, revealing the presence of variants even in non-coding regions of…”
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Impact of a Moderately Hypocaloric Mediterranean Diet on the Gut Microbiota Composition of Italian Obese Patients
Published in Nutrients (04-09-2020)“…Although it is known that the gut microbiota (GM) can be modulated by diet, the efficacy of specific dietary interventions in determining its composition and…”
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Portrait of Cancer Stem Cells on Colorectal Cancer: Molecular Biomarkers, Signaling Pathways and miRNAome
Published in International journal of molecular sciences (05-02-2021)“…Colorectal cancer (CRC) is a leading cause of cancer death worldwide, and about 20% is metastatic at diagnosis and untreatable. Increasing evidence suggests…”
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Comparative expression pathway analysis of human and canine mammary tumors
Published in BMC genomics (27-03-2009)“…Spontaneous tumors in dog have been demonstrated to share many features with their human counterparts, including relevant molecular targets, histological…”
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How Genetics Might Explain the Unusual Link Between Malaria and COVID-19
Published in Frontiers in medicine (26-04-2021)“…Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-associated coronavirus disease 2019 (COVID-19) pandemic has been the subject of a large number of…”
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Editorial: From Sequence to Functional Interpretation: Sifting Through the Variation of Genomic Data
Published in Frontiers in genetics (17-06-2022)Get full text
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Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis
Published in Haematologica (Roma) (01-01-2021)“…Allogeneic hematopoietic stem cell transplantation is the treatment of choice for autosomal recessive osteopetrosis caused by defects in the TCIRG1 gene…”
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Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1
Published in Bone (New York, N.Y.) (01-09-2018)“…Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, short stature…”
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Integrated Analysis of miRNA and mRNA Endorses a Twenty miRNAs Signature for Colorectal Carcinoma
Published in International journal of molecular sciences (20-08-2019)“…Colorectal cancer (CRC) ranks as the most frequent carcinoma worldwide. CRC patients show strong prognostic differences and responses to treatment, and 20%…”
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MicroRNA-127-3p controls murine hematopoietic stem cell maintenance by limiting differentiation
Published in Haematologica (Roma) (01-09-2019)“…The balance between self-renewal and differentiation is crucial to ensure the homeostasis of the hematopoietic system, and is a hallmark of hematopoietic stem…”
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Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene
Published in Bone (New York, N.Y.) (01-04-2017)“…Osteopetrosis (OPT) is a rare skeletal disorder with phenotypic and genotypic heterogeneity: a variety of clinical features besides the bony defect may be…”
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Laniakea@ReCaS: exploring the potential of customisable Galaxy on-demand instances as a cloud-based service
Published in BMC bioinformatics (08-11-2021)“…Abstract Background Improving the availability and usability of data and analytical tools is a critical precondition for further advancing modern biological…”
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Identification of a histone deacetylase inhibitor as a therapeutic candidate for congenital central hypoventilation syndrome
Published in Molecular therapy. Nucleic acids (10-12-2024)“…Congenital central hypoventilation syndrome (CCHS), a rare genetic disease caused by heterozygous PHOX2B mutations, is characterized by life-threatening…”
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Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene
Published in International journal of molecular sciences (08-02-2024)“…Serine/arginine-rich splicing factors (SRSFs) are a family of proteins involved in RNA metabolism, including pre-mRNA constitutive and alternative splicing…”
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Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma
Published in Scientific reports (16-01-2020)“…We focused on an integrated view of genomic changes in Colorectal cancer (CRC) and distant normal colon tissue (NTC) to test the effectiveness of expression…”
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Clinical Phenotypes of Parkinson's Disease Associate with Distinct Gut Microbiota and Metabolome Enterotypes
Published in Biomolecules (Basel, Switzerland) (22-01-2021)“…Parkinson's disease (PD) is a clinically heterogenic disorder characterized by distinct clinical entities. Most studies on motor deficits dichotomize PD into…”
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